| Panel naam | NGS Bardet Biedl syndroom |
|---|---|
| Panel methode | WES-based NGS |
| Panel versie ** | v1 |
| Panel kwaliteit *** | C |
| Core-NL | Geen core-NL genen inbegrepen |
| CNV analyse | Ja |
| Locatie | Locatie VUmc |
| Genen (32) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| ADIPOR1 | C | 100 | 100 | ||
| ALMS1 | C | 100 | 100 | ||
| ARL6 | C | 99.93 | 100 | ||
| BBIP1 | C | 100 | 100 | ||
| BBS1 | C | 100 | 100 | ||
| BBS10 | C | 100 | 100 | ||
| BBS12 | C | 100 | 100 | ||
| BBS2 | C | 100 | 100 | ||
| BBS4 | C | 99.97 | 99.99 | ||
| BBS5 | C | 99.97 | 100 | ||
| BBS7 | C | 100 | 100 | ||
| BBS9 | C | 99.96 | 99.98 | ||
| CCDC28B | C | 100 | 100 | ||
| CEP164 | C | 100 | 100 | ||
| CEP19 | C | 100 | 100 | ||
| CEP290 | C | 99.97 | 100 | ||
| CFAP418 | C | 100 | 100 | ||
| IFT172 | C | 100 | 100 | ||
| IFT27 | C | 100 | 100 | ||
| IFT74 | C | 99.96 | 100 | ||
| INPP5E | C | 100 | 100 | ||
| KCNJ13 | C | 100 | 100 | ||
| LZTFL1 | C | 100 | 100 | ||
| MKKS | C | 100 | 100 | ||
| MKS1 | C | 99.9 | 99.98 | ||
| NPHP1 | C | 99.95 | 100 | ||
| SCAPER | C | 100 | 100 | ||
| SCLT1 | C | 99.9 | 100 | ||
| SDCCAG8 | C | 100 | 100 | ||
| TRIM32 | C | 100 | 100 | ||
| TTC8 | C | 99.99 | 100 | ||
| WDPCP | C | 99.99 | 100 |
| Indicatie(s) |
|---|
| Bardet Biedl syndroom |
** Voor informatie over eerdere versies van dit panel neem contact op met het laboratorium Genoomdiagnostiek
*** NGS panel genen kunnen met verschillende kwaliteit worden geanalyseerd. Meer informatie over testkwaliteit type A, C or A/C